Canonical Allele Identifier: CA236608327

Gene: WNT1

Linked Data

• dbSNP Id: rs1033810883
• gnomAD v2: 12-49373408-A-C
• gnomAD v4: 12-48979625-A-C
• MyVariant Identifiers: chr12:g.49373408A>C (hg19) ; chr12:g.48979625A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48979625A>C , CM000674.2:g.48979625A>C	GRCh38
NC_000012.11:g.49373408A>C , CM000674.1:g.49373408A>C	GRCh37
NC_000012.10:g.47659675A>C	NCBI36
NG_033141.1:g.6173A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293549.4:c.262A>C MANE Select	ENSP00000293549.3:p.Ser88Arg
ENST00000293549.3:c.262A>C	ENSP00000293549.3:p.Ser88Arg
ENST00000613114.4:c.262A>C	ENSP00000481240.1:p.Ser88Arg
NM_005430.3:c.262A>C	NP_005421.1:p.Ser88Arg
NM_005430.4:c.262A>C MANE Select	NP_005421.1:p.Ser88Arg